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Glucose-6-phosphate Dehydrogenase(G6PD) Deficiency


Step 1: View clinicals

A 41 year old African American woman presents with abdominal pain, jaundice and dark urine for 3 days. She had experienced several bouts of vomiting since the previous day. On the day her symptoms began, she had a dish of broad beans for breakfast. Her medical and family histories are unremarkable. She underwent cholecystectomy at the age of 38. Her travel history is significant for a trip to Congo 5 months ago, where she stayed for 2 weeks. Currently she is not on any medication. She only drinks socially, and does not have a history of IV drug abuse or sexual promiscuity.

Step 2: Order all relevant investigations

Full Blood Count

WBC: 9.1×10^9/L (4-11×10^9) N: 59% (50-70) L: 35% (20-40) Hb: 5.8 g/dL (11.5-13.5) RBC: 1.9×10^12/L (4.0-5.4×10^12) MCV: 105 fL Reticulocytes: 7% (0.2- 2) Platelets: 190 × 10^9/L (150- 400 × 10^9)

Peripheral Blood Smear

There are numerous blister and bite cells along with polychromasia and nucleated red blood cells; special preparation with supravital staining demonstrates Heinz bodies

Liver Profile

AST: 22 U/L (<35) ALT: 16 U/L (<35) ALP: 68 U/L (40-125) GGT: 25 U/L (5-55) Total Serum Bilirubin: 2.1 mg/dL (0.2-1.2) Direct Bilirubin: 0.3 mg/dL (0.1-0.4)

Renal Function Tests

Serum Creatinine: 0.8 mg/dL (0.6-1.2) Estimated Glomerular Filtration Rate (eGFR): 96 ml/min/1.73m2 (>90) Blood Urea Nitrogen: 16 mg/dL (7-20)

Step 3: Select appropriate management

Iron Supplementation
Folic Acid supplementation
Antimalarial drugs

Score: ★★☆